A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2653138



Internal ID8370010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60041947..60043466hg38UCSC Ensembl
Outerchr17:58119308..58120827hg19UCSC Ensembl
Outerchr17:55474090..55475609hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg381520
hg191520
hg181520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5345710
SamplesNA18507
Known GenesHEATR6, MIR4737
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)esv2653138
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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