A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2608825



Internal ID8672383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152593394..152596146hg38UCSC Ensembl
Outerchr3:152311183..152313935hg19UCSC Ensembl
Outerchr3:153793873..153796625hg18UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg382753
hg192753
hg182753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5315439
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)esv2608825
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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