A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6516874



Internal ID9494278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151230799..151234923hg38UCSC Ensembl
chr3:150948587..150952711hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384125
hg194125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673993
Supporting Variants
SamplesNA20508
Known GenesMED12L, P2RY14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6516874
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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