A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2522522



Internal ID1553062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52037866..52039244hg38UCSC Ensembl
Outerchr4:52904032..52905410hg19UCSC Ensembl
Outerchr4:52598789..52600167hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381379
hg191379
hg181379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5191526
SamplesNA18507
Known GenesSGCB
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)esv2522522
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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