A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2549803



Internal ID8613361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186463504..186466054hg38UCSC Ensembl
Outerchr3:186181293..186183843hg19UCSC Ensembl
Outerchr3:187663987..187666537hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg382551
hg192551
hg182551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5214673
SamplesNA18507
Known GenesLOC253573
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)esv2549803
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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