A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12740675



Internal ID2742491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37891337..37897492hg38UCSC Ensembl
chr7:37930939..37937094hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386156
hg196156
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612864
Supporting Variants
SamplesHG02429
Known GenesNME8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12740675
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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