A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5183426



Internal ID7928475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37707403..37708102hg38UCSC Ensembl
Outerchr21:39079705..39080404hg19UCSC Ensembl
Outerchr21:38001575..38002274hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38536
hg19536
hg18536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2611134
Supporting Variants
SamplesNA18507
Known GenesKCNJ6
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5183426
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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