A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2653998



Internal ID8370870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127611002..127612363hg38UCSC Ensembl
Outerchr3:127329845..127331206hg19UCSC Ensembl
Outerchr3:128812535..128813896hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381362
hg191362
hg181362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5166693
SamplesNA18507
Known GenesMCM2
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)esv2653998
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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