A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5241238



Internal ID8332973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71638744..71640418hg38UCSC Ensembl
Outerchr8:72550979..72552653hg19UCSC Ensembl
Outerchr8:72713533..72715207hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2545626
Supporting Variants
SamplesNA18507
Known Genes
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)essv5241238
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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