A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5305651



Internal ID8050700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177421972..177423658hg38UCSC Ensembl
Outerchr2:178286700..178288386hg19UCSC Ensembl
Outerchr2:177994946..177996632hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381687
hg191687
hg181687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2433824
Supporting Variants
SamplesNA18507
Known GenesAGPS
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)essv5305651
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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