A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2519868



Internal ID8236741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95945792..95949789hg38UCSC Ensembl
Outerchr12:96339570..96343567hg19UCSC Ensembl
Outerchr12:94863701..94867698hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383998
hg193998
hg183998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5322581
SamplesNA18507
Known GenesAMDHD1
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)esv2519868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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