A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721635



Internal ID10305271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232899387..232900864hg38UCSC Ensembl
Outerchr2:233764097..233765574hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955559, essv6789646, essv6886323, essv6752775, essv6880759, essv6722446, essv6793781, essv6825507, essv6910531, essv6714697, essv6892739, essv6730060, essv6864547, essv6920829, essv6902967, essv6825506, essv6789647, essv6810678, essv6864548, essv6847778, essv6926090, essv6785511, essv6886322, essv6955558, essv6804781, essv6777391, essv6906611, essv6821639, essv6722445, essv6722447, essv6781382, essv6962322
SamplesSSM008, SSM071, SSM027, SSM045, SSM079, SSM013, SSM074, SSM047, SSM069, SSM096, SSM026, SSM089, SSM019, SSM094, SSM003, SSM067, SSM014, SSM086, SSM068, SSM015, SSM080, SSM076, SSM070, SSM043, SSM098
Known GenesNGEF
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721635
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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