A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2610871



Internal ID8674429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186794987..186796759hg38UCSC Ensembl
Outerchr1:186764119..186765891hg19UCSC Ensembl
Outerchr1:185030742..185032514hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381773
hg191773
hg181773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5386326
SamplesNA18507
Known Genes
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)esv2610871
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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