A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674992



Internal ID9594411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237517285..237517728hg38UCSC Ensembl
chr2:238425928..238426371hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5828441, essv5767541, essv5728400, essv5781606, essv6342532, essv5920299, essv5442669, essv5969774, essv6010280, essv5729543, essv6574179, essv5425149, essv6397142, essv5418691, essv6152330, essv6356870, essv6426926, essv5442566, essv5649444, essv6177613, essv5553112, essv6353041, essv5900093, essv6497880, essv5715456, essv6208026, essv5616787, essv6056269, essv5678521, essv6470184, essv6151347, essv5611420, essv5399055, essv5904337, essv5774747, essv5787805, essv5734678, essv6031036, essv5998971, essv6340210, essv6188526, essv5527947, essv5548340, essv6060857, essv5890685, essv5949865, essv5569836, essv5560090, essv5570813, essv5605921, essv6193026, essv6256599, essv6015361, essv5847045, essv5689695, essv6233674, essv5419398, essv5741677, essv5396808, essv5575804, essv5693504, essv6246026, essv6410035, essv6279157, essv5720499, essv6574950, essv6538835, essv6361109, essv5559247, essv5810828, essv5823731, essv5631762, essv6215431, essv5406169, essv6046408, essv5890059, essv5929377, essv5591324
SamplesNA12827, NA18964, HG00537, NA07347, NA20787, NA20771, NA12286, NA19819, NA07056, NA18874, HG00500, NA20796, NA12340, NA20775, NA19670, NA19788, NA20800, NA20816, NA18947, HG00557, NA19701, NA18950, NA20761, NA20505, NA19085, NA20533, NA19652, NA19675, NA18576, NA18960, NA19471, NA20757, NA20807, NA18856, NA19908, HG00149, HG00338, NA18959, NA11843, NA12829, NA19679, HG01187, NA20773, NA20769, NA19080, NA12046, NA19189, NA18572, HG00268, NA19002, HG01069, NA18487, NA20774, NA19909, NA18562, NA19074, HG01060, HG00120, NA18619, NA20581, NA18983, NA18599, NA20799, NA18538, NA18565, NA18544, HG00608, NA18577, NA19717, NA12842, NA18499, HG00422, NA20543, NA18984, NA19315, NA18574, NA20806, NA19468
Known GenesMLPH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674992
Frequency
Sample Size1151
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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