A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5242554



Internal ID7987603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35049193..35050885hg38UCSC Ensembl
Outerchr1:35514794..35516486hg19UCSC Ensembl
Outerchr1:35287381..35289073hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381693
hg191693
hg181693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2448755
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)essv5242554
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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