A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2560456



Internal ID1590996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:20075399..20078278hg38UCSC Ensembl
Outerchr13:20649539..20652418hg19UCSC Ensembl
Outerchr13:19547539..19550418hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382880
hg192880
hg182880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5236826
SamplesNA18507
Known GenesZMYM2
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)esv2560456
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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