A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5299773



Internal ID8391508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:74715696..74717251hg38UCSC Ensembl
Outerchr3:74764847..74766402hg19UCSC Ensembl
Outerchr3:74847537..74849092hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg381556
hg191556
hg181556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2577370
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)essv5299773
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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