A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5328668



Internal ID8073717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110054002..110055260hg38UCSC Ensembl
Outerchr10:111813760..111815018hg19UCSC Ensembl
Outerchr10:111803750..111805008hg18UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg381259
hg191259
hg181259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2501162
Supporting Variants
SamplesNA18507
Known GenesADD3
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)essv5328668
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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