A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5210007



Internal ID8301742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:185797375..185798912hg38UCSC Ensembl
Outerchr1:185766507..185768044hg19UCSC Ensembl
Outerchr1:184033130..184034667hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381538
hg191538
hg181538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2468461
Supporting Variants
SamplesNA18507
Known GenesHMCN1
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)essv5210007
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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