A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5210511



Internal ID7955560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:161865495..161866930hg38UCSC Ensembl
Outerchr5:161292501..161293936hg19UCSC Ensembl
Outerchr5:161225079..161226514hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381436
hg191436
hg181436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2533707
Supporting Variants
SamplesNA18507
Known GenesGABRA1
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)essv5210511
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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