A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6416203



Internal ID9674770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148150081..148154431hg38UCSC Ensembl
chr7:147847173..147851523hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384351
hg194351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670699
Supporting Variants
SamplesNA19404
Known GenesCNTNAP2, MIR548T
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6416203
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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