A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7111024



Internal ID10042620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576837..157577166hg38UCSC Ensembl
Outerchr2:158433349..158433678hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2841457
Supporting Variants
SamplesHuRef
Known GenesACVR1C
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7111024
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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