A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2598897



Internal ID8315769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27280651..27282159hg38UCSC Ensembl
Outerchr12:27433584..27435092hg19UCSC Ensembl
Outerchr12:27324851..27326359hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381509
hg191509
hg181509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5333908
SamplesNA18507
Known GenesSTK38L
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)esv2598897
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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