A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5300192



Internal ID8045241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48729055..48730498hg38UCSC Ensembl
Outerchr8:49641614..49643057hg19UCSC Ensembl
Outerchr8:49804167..49805610hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381444
hg191444
hg181444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2615769
Supporting Variants
SamplesNA18507
Known GenesEFCAB1
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)essv5300192
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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