A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2579632



Internal ID8296504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:88762786..88764203hg38UCSC Ensembl
Outerchr7:88392100..88393517hg19UCSC Ensembl
Outerchr7:88230036..88231453hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381418
hg191418
hg181418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5354833
SamplesNA18507
Known GenesZNF804B
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)esv2579632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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