A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12568554



Internal ID6600164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:140454624..140543114hg38UCSC Ensembl
Innerchr6:140454657..140543082hg38UCSC Ensembl
Outerchr6:140454592..140543147hg38UCSC Ensembl
chr6:140775761..140864251hg19UCSC Ensembl
Innerchr6:140775794..140864219hg19UCSC Ensembl
Outerchr6:140775729..140864284hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3888491
hg1988491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611011
Supporting Variants
SamplesNA20771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12568554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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