A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1387135



Internal ID12203571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1085117..1085250hg38UCSC Ensembl
chr12:1194283..1194416hg19UCSC Ensembl
chr12:1064544..1064677hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38134
hg19134
hg18134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4007397
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1387135
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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