A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678433



Internal ID9597852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237837657..237838049hg38UCSC Ensembl
chr2:238746300..238746692hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6234762, essv6495965, essv5536098, essv5997105, essv5512565, essv6216662, essv6535848, essv6006802, essv6271601, essv6047229, essv5772702, essv6111656, essv5508110, essv5739051, essv5801169, essv5410290, essv5877959, essv6045073, essv5412011, essv5891326, essv6184597, essv5922205, essv6525662, essv6220922, essv5843358, essv5490171, essv5526266, essv6562450, essv5522482, essv6106279, essv5915060, essv6512697, essv6113376, essv5635091, essv6091899, essv6351144, essv5992735, essv6281139, essv5731611, essv6026506, essv5562444, essv6377492, essv6389135, essv6490977, essv6317964, essv5826024, essv6408680, essv5923357
SamplesNA12154, HG00318, NA07347, NA18951, NA20503, HG00171, HG00245, NA18526, NA19455, NA18603, HG01082, NA18517, HG00375, HG01491, NA18608, HG01188, NA07051, NA19678, HG01101, HG01134, NA12287, HG00256, NA11994, NA18576, HG01048, NA20530, NA20754, NA18592, NA18856, NA18638, HG00125, HG00254, NA12751, NA19725, NA19153, HG00268, NA18558, HG00273, NA20542, HG01060, NA18909, NA19434, HG00123, NA18499, NA12045, NA11829, HG00271, NA18980
Known GenesRBM44
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678433
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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