A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2509341



Internal ID8226213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88729035..88733389hg38UCSC Ensembl
Outerchr2:89028553..89032906hg19UCSC Ensembl
Outerchr2:88809668..88814021hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384355
hg194354
hg184354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5347693
SamplesNA18507
Known GenesRPIA
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)esv2509341
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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