A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615408



Internal ID7002297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148164314..148165825hg38UCSC Ensembl
Innerchr7:148164315..148165824hg38UCSC Ensembl
Outerchr7:148164313..148165826hg38UCSC Ensembl
chr7:147861406..147862917hg19UCSC Ensembl
Innerchr7:147861407..147862916hg19UCSC Ensembl
Outerchr7:147861405..147862918hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381512
hg191512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12999513, essv12999514, essv12999512, essv12999511
SamplesHG03096, HG03548, HG02613, HG03060
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615408
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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