A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5322037



Internal ID8413772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139056883..139058509hg38UCSC Ensembl
Outerchr7:138741629..138743255hg19UCSC Ensembl
Outerchr7:138392169..138393795hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381627
hg191627
hg181627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2494461
Supporting Variants
SamplesNA18507
Known GenesZC3HAV1
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)essv5322037
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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