A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2477162



Internal ID8540720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204204441..204206040hg38UCSC Ensembl
Outerchr1:204173569..204175168hg19UCSC Ensembl
Outerchr1:202440192..202441791hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381600
hg191600
hg181600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5307527
SamplesNA18507
Known GenesGOLT1A
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)esv2477162
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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