A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5324392



Internal ID8416127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144830797..144832824hg38UCSC Ensembl
Outerchr8:146056182..146058209hg19UCSC Ensembl
Outerchr8:146026986..146029013hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382028
hg192028
hg182028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506190
Supporting Variants
SamplesNA18507
Known GenesZNF7
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)essv5324392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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