A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5249619



Internal ID8341354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:61483529..61485090hg38UCSC Ensembl
Outerchr2:61710664..61712225hg19UCSC Ensembl
Outerchr2:61564168..61565729hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381562
hg191562
hg181562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2463303
Supporting Variants
SamplesNA18507
Known GenesXPO1
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)essv5249619
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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