A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5203286



Internal ID8295021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17378277..17379705hg38UCSC Ensembl
Outerchr1:17704772..17706200hg19UCSC Ensembl
Outerchr1:17577359..17578787hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381429
hg191429
hg181429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2590404
Supporting Variants
SamplesNA18507
Known GenesPADI6
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)essv5203286
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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