A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2609872



Internal ID8326744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24075963..24077746hg38UCSC Ensembl
Outerchr1:24402453..24404236hg19UCSC Ensembl
Outerchr1:24275040..24276823hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381784
hg191784
hg181784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5352209
SamplesNA18507
Known GenesMYOM3
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)esv2609872
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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