A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5253077



Internal ID8344812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:17403359..17410065hg38UCSC Ensembl
Outerchr2:17584626..17591332hg19UCSC Ensembl
Outerchr2:17448107..17454813hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg386707
hg196707
hg186707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2485815
Supporting Variants
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)essv5253077
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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