A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1180168



Internal ID11996605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1085271..1085478hg38UCSC Ensembl
chr12:1194437..1194644hg19UCSC Ensembl
chr12:1064698..1064905hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3788004
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1180168
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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