A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5239382



Internal ID7984431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63849901..63851343hg38UCSC Ensembl
Outerchr2:64077035..64078477hg19UCSC Ensembl
Outerchr2:63930539..63931981hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381443
hg191443
hg181443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2470969
Supporting Variants
SamplesNA18507
Known GenesUGP2
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)essv5239382
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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