A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5252722



Internal ID7997771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82159651..82160393hg38UCSC Ensembl
Outerchr7:81788967..81789709hg19UCSC Ensembl
Outerchr7:81626903..81627645hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38462
hg19462
hg18462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2655042
Supporting Variants
SamplesNA18507
Known GenesCACNA2D1
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)essv5252722
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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