A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5380019



Internal ID8471754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:21127416..21128729hg38UCSC Ensembl
Outerchr2:21350288..21351601hg19UCSC Ensembl
Outerchr2:21203793..21205106hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381314
hg191314
hg181314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2621130
Supporting Variants
SamplesNA18507
Known Genes
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)essv5380019
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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