A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615409



Internal ID6655608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148174858..148187078hg38UCSC Ensembl
Innerchr7:148174858..148187078hg38UCSC Ensembl
Outerchr7:148174611..148187338hg38UCSC Ensembl
chr7:147871950..147884170hg19UCSC Ensembl
Innerchr7:147871950..147884170hg19UCSC Ensembl
Outerchr7:147871703..147884430hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3812221
hg1912221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12999515
SamplesHG01844
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615409
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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