A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629049



Internal ID6669189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31570514..31571261hg38UCSC Ensembl
Innerchr12:31570564..31571116hg38UCSC Ensembl
Outerchr12:31570313..31571462hg38UCSC Ensembl
chr12:31723448..31724195hg19UCSC Ensembl
Innerchr12:31723498..31724050hg19UCSC Ensembl
Outerchr12:31723247..31724396hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14434109, essv14434108, essv14434092, essv14434114, essv14434116, essv14434120, essv14434115, essv14434111, essv14434118, essv14434107, essv14434105, essv14434117, essv14434112, essv14434097, essv14434121, essv14434102, essv14434095, essv14434101, essv14434098, essv14434104, essv14434094, essv14434090, essv14434093, essv14434099, essv14434096, essv14434122, essv14434119, essv14434089, essv14434100, essv14434103, essv14434113, essv14434091, essv14434110, essv14434106
SamplesHG02574, NA19700, HG03052, HG03449, NA20346, HG03074, HG02645, HG03460, NA19137, HG03380, HG02715, HG02953, HG03563, HG01161, HG03388, HG02881, NA19338, HG01896, NA19019, HG01915, HG02837, NA20351, HG02464, HG03557, HG01086, HG03432, HG03039, HG03025, HG03351, HG03410, NA19711, HG01775, HG02465, NA19153
Known GenesDENND5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629049
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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