A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665867



Internal ID9931972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34686521..34686739hg38UCSC Ensembl
Outerchr6:34686364..34686892hg38UCSC Ensembl
Innerchr6:34654298..34654516hg19UCSC Ensembl
Outerchr6:34654141..34654669hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6113828, essv6358984, essv6389848, essv5813241, essv6402429, essv5411097, essv6064364, essv5435743, essv5873685, essv5758331, essv5885289, essv5812286, essv5917394, essv5577835, essv6252715, essv5459357, essv5937679, essv6483080, essv6352987
SamplesHG00650, HG00608, NA18621, NA18599, NA18999, HG00699, HG00566, HG00449, NA18611, NA18557, HG00543, HG00443, NA19077, HG00584, HG00692, HG00690, HG00331, HG00704, NA18559
Known GenesC6orf106
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665867
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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