A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610952



Internal ID6651177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138175582..138179009hg38UCSC Ensembl
Innerchr6:138175714..138178959hg38UCSC Ensembl
Outerchr6:138175484..138179107hg38UCSC Ensembl
chr6:138496719..138500146hg19UCSC Ensembl
Innerchr6:138496851..138500096hg19UCSC Ensembl
Outerchr6:138496621..138500244hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383428
hg193428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12565648
SamplesHG02107
Known GenesKIAA1244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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