A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12390363



Internal ID6247775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63956575..63958509hg38UCSC Ensembl
Innerchr6:63956598..63958487hg38UCSC Ensembl
Outerchr6:63956553..63958532hg38UCSC Ensembl
chr6:64666468..64668402hg19UCSC Ensembl
Innerchr6:64666491..64668380hg19UCSC Ensembl
Outerchr6:64666446..64668425hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609271
Supporting Variants
SamplesNA19773
Known GenesEYS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12390363
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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