A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3871222



Internal ID11543963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157576837..157577166hg38UCSC Ensembl
chr2:158433349..158433678hg19UCSC Ensembl
chr2:158141595..158141924hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1723038
Supporting Variants
SamplesHuRef
Known GenesACVR1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3871222
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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