A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12625329



Internal ID2627145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163515945..163524558hg38UCSC Ensembl
Innerchr6:163515945..163524558hg38UCSC Ensembl
Outerchr6:163515597..163524863hg38UCSC Ensembl
chr6:163936977..163945590hg19UCSC Ensembl
Innerchr6:163936977..163945590hg19UCSC Ensembl
Outerchr6:163936629..163945895hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg388614
hg198614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611580
Supporting Variants
SamplesHG01781
Known GenesQKI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12625329
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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