A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609502



Internal ID6996423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73270452..73272693hg38UCSC Ensembl
Innerchr6:73270468..73272678hg38UCSC Ensembl
Outerchr6:73270437..73272709hg38UCSC Ensembl
chr6:73980175..73982416hg19UCSC Ensembl
Innerchr6:73980191..73982401hg19UCSC Ensembl
Outerchr6:73980160..73982432hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12419414, essv12419412, essv12419413, essv12419411
SamplesNA19391, HG03945, HG04173, NA19072
Known GenesKHDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609502
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer