A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2655277



Internal ID1685817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99898879..99900349hg38UCSC Ensembl
Outerchr1:100364435..100365905hg19UCSC Ensembl
Outerchr1:100137023..100138493hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381471
hg191471
hg181471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5201134
SamplesNA18507
Known GenesAGL
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)esv2655277
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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