A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5394340



Internal ID8139389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2545971..2547115hg38UCSC Ensembl
Outerchr12:2655137..2656281hg19UCSC Ensembl
Outerchr12:2525398..2526542hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2485224
Supporting Variants
SamplesNA18507
Known GenesCACNA1C
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)essv5394340
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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