A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5376989



Internal ID8122038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26823866..26825290hg38UCSC Ensembl
Outerchr12:26976799..26978223hg19UCSC Ensembl
Outerchr12:26868066..26869490hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381425
hg191425
hg181425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2653675
Supporting Variants
SamplesNA18507
Known GenesITPR2
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)essv5376989
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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