A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610724



Internal ID6997641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127497266..127500865hg38UCSC Ensembl
Innerchr6:127497266..127500865hg38UCSC Ensembl
Outerchr6:127496766..127501365hg38UCSC Ensembl
chr6:127818411..127822010hg19UCSC Ensembl
Innerchr6:127818411..127822010hg19UCSC Ensembl
Outerchr6:127817911..127822510hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12540999, essv12540998
SamplesNA19473, NA19430
Known GenesSOGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610724
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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