A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2639096



Internal ID8702654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244631871..244633337hg38UCSC Ensembl
Outerchr1:244795173..244796639hg19UCSC Ensembl
Outerchr1:242861796..242863262hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381467
hg191467
hg181467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5332641
SamplesNA18507
Known GenesC1orf101
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)esv2639096
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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