A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611172



Internal ID6998083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147535375..147542926hg38UCSC Ensembl
Innerchr6:147535425..147542876hg38UCSC Ensembl
Outerchr6:147535325..147542976hg38UCSC Ensembl
chr6:147856511..147864062hg19UCSC Ensembl
Innerchr6:147856561..147864012hg19UCSC Ensembl
Outerchr6:147856461..147864112hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387552
hg197552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12577545
SamplesNA20525
Known GenesSAMD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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