A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5311624



Internal ID8056673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:88110545..88111421hg38UCSC Ensembl
Outerchr7:87739860..87740736hg19UCSC Ensembl
Outerchr7:87577796..87578672hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38389
hg19389
hg18389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2486343
Supporting Variants
SamplesNA18507
Known GenesADAM22
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)essv5311624
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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