A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12841078



Internal ID2842894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74090462..74398730hg38UCSC Ensembl
chr7:73504792..73813060hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38308269
hg19308269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613698
Supporting Variants
SamplesHG00342
Known GenesCLIP2, EIF4H, LAT2, LIMK1, MIR590, RFC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12841078
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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