A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5180231



Internal ID8271966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:95025156..95025604hg38UCSC Ensembl
Outerchr13:95677410..95677858hg19UCSC Ensembl
Outerchr13:94475411..94475859hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38735
hg19735
hg18735
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2530045
Supporting Variants
SamplesNA18507
Known GenesABCC4
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)essv5180231
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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