A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615406



Internal ID7002295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148150202..148154544hg38UCSC Ensembl
Innerchr7:148150252..148154494hg38UCSC Ensembl
Outerchr7:148150111..148154635hg38UCSC Ensembl
chr7:147847294..147851636hg19UCSC Ensembl
Innerchr7:147847344..147851586hg19UCSC Ensembl
Outerchr7:147847203..147851727hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384343
hg194343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12999508, essv12999507
SamplesNA19446, NA19404
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615406
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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