A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12417490



Internal ID2419306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71910511..71910963hg38UCSC Ensembl
Innerchr6:71910561..71910913hg38UCSC Ensembl
Outerchr6:71910403..71911071hg38UCSC Ensembl
chr6:72620214..72620666hg19UCSC Ensembl
Innerchr6:72620264..72620616hg19UCSC Ensembl
Outerchr6:72620106..72620774hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609473
Supporting Variants
SamplesHG00708
Known GenesRIMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12417490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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