A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619674



Internal ID8683232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:148700407..148701744hg38UCSC Ensembl
Outerchr2:149457976..149459313hg19UCSC Ensembl
Outerchr2:149174446..149175783hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg381338
hg191338
hg181338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5388790
SamplesNA18507
Known GenesEPC2
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)esv2619674
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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