A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2492216



Internal ID8555774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:75020783..75021996hg38UCSC Ensembl
Outerchr8:75933018..75934231hg19UCSC Ensembl
Outerchr8:76095573..76096786hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5304313
SamplesNA18507
Known GenesCRISPLD1
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)esv2492216
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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