A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609105



Internal ID6996027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56750202..56753779hg38UCSC Ensembl
Innerchr6:56750202..56753779hg38UCSC Ensembl
Outerchr6:56749906..56753972hg38UCSC Ensembl
chr6:56615000..56618577hg19UCSC Ensembl
Innerchr6:56615000..56618577hg19UCSC Ensembl
Outerchr6:56614704..56618770hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg383578
hg193578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12366705, essv12366707, essv12366706
SamplesNA12762, HG00263, HG00111
Known GenesDST, RNU6-71P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609105
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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