A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5285972



Internal ID8377707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120175834..120179977hg38UCSC Ensembl
Outerchr1:145092419..145097809hg19UCSC Ensembl
Outerchr1:143803776..143809166hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384144
hg195391
hg185391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2548575
Supporting Variants
SamplesNA18507
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
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)essv5285972
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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