A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13013846



Internal ID2643864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152303189..152355939hg38UCSC Ensembl
chr7:152000274..152053024hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3852751
hg1952751
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615501
Supporting Variants
SamplesHG02337
Known GenesKMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13013846
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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