A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2507346



Internal ID8224218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:96953243..96954106hg38UCSC Ensembl
Outerchr12:97347021..97347884hg19UCSC Ensembl
Outerchr12:95871152..95872015hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38308
hg19308
hg18308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5226542
SamplesNA18507
Known GenesNEDD1
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)esv2507346
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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