A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5197337



Internal ID8289072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101704173..101706438hg38UCSC Ensembl
Outerchr12:102097951..102100216hg19UCSC Ensembl
Outerchr12:100622082..100624347hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382266
hg192266
hg182266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2566252
Supporting Variants
SamplesNA18507
Known GenesCHPT1
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)essv5197337
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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