A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5174316



Internal ID8266051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129426096..129427096hg38UCSC Ensembl
Outerchr7:129065937..129066937hg19UCSC Ensembl
Outerchr7:128853173..128854173hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2559463
Supporting Variants
SamplesNA18507
Known GenesAHCYL2
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)essv5174316
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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