A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5206050



Internal ID8297785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3671273..3673449hg38UCSC Ensembl
Outerchr2:3718863..3721039hg19UCSC Ensembl
Outerchr2:3696738..3698914hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382177
hg192177
hg182177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2428176
Supporting Variants
SamplesNA18507
Known GenesALLC
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)essv5206050
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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