A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5274708



Internal ID8366443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65865377..65867038hg38UCSC Ensembl
Outerchr18:63532613..63534274hg19UCSC Ensembl
Outerchr18:61683593..61685254hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg381662
hg191662
hg181662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2521787
Supporting Variants
SamplesNA18507
Known GenesCDH7
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)essv5274708
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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