A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678338



Internal ID9944443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148394302..148397130hg38UCSC Ensembl
chr7:148091394..148094222hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382829
hg192829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1247e199
Supporting Variantsessv5453494, essv6561214
SamplesHG00436, NA18632
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678338
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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