A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5336313



Internal ID8428048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102767875..102769542hg38UCSC Ensembl
Outerchr10:104527632..104529299hg19UCSC Ensembl
Outerchr10:104517622..104519289hg18UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381668
hg191668
hg181668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2532539
Supporting Variants
SamplesNA18507
Known GenesWBP1L
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)essv5336313
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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