A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5256765



Internal ID8001814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176358246..176359728hg38UCSC Ensembl
Outerchr5:175785249..175786731hg19UCSC Ensembl
Outerchr5:175717855..175719337hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381483
hg191483
hg181483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2648102
Supporting Variants
SamplesNA18507
Known GenesKIAA1191
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)essv5256765
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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