A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2525447



Internal ID8589005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24831229..24835262hg38UCSC Ensembl
Outerchr1:25157720..25161753hg19UCSC Ensembl
Outerchr1:25030307..25034340hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384034
hg194034
hg184034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5183045
SamplesNA18507
Known GenesCLIC4
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)esv2525447
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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