A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5162114



Internal ID7907163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101747345..101748016hg38UCSC Ensembl
Outerchr12:102141123..102141794hg19UCSC Ensembl
Outerchr12:100665254..100665925hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38603
hg19603
hg18603
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2615882
Supporting Variants
SamplesNA18507
Known GenesGNPTAB
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)essv5162114
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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