A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609473



Internal ID6649703
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12417491, essv12417490
SamplesHG02562, HG00708
Known GenesRIMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609473
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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