A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2464712



Internal ID8181584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297066..212300063hg38UCSC Ensembl
Outerchr1:212470408..212473405hg19UCSC Ensembl
Outerchr1:210537031..210540028hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382998
hg192998
hg182998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5205300
SamplesNA18507
Known GenesPPP2R5A
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)esv2464712
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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