A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5192747



Internal ID7937796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118092460..118095010hg38UCSC Ensembl
Outerchr2:118850036..118852586hg19UCSC Ensembl
Outerchr2:118566506..118569056hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg382551
hg192551
hg182551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2596819
Supporting Variants
SamplesNA18507
Known GenesINSIG2
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)essv5192747
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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