A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402244



Internal ID15249206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7471591..7471606hg38UCSC Ensembl
Innerchr12:7471585..7471612hg38UCSC Ensembl
Outerchr12:7471570..7471627hg38UCSC Ensembl
chr12:7624187..7624202hg19UCSC Ensembl
Innerchr12:7624181..7624208hg19UCSC Ensembl
Outerchr12:7624166..7624223hg19UCSC Ensembl
chr12:7515454..7515469hg18UCSC Ensembl
Innerchr12:7515475..7515448hg18UCSC Ensembl
Outerchr12:7515433..7515490hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8955594, essv8955596, essv8955603, essv8955595, essv8955605, essv8955601, essv8955599, essv8955600, essv8955602, essv8955597, essv8955598
SamplesNA18561, NA18526, NA07346, NA11918, NA11831, NA12249, NA18961, NA18952, NA12749, NA18965, NA18577
Known GenesCD163
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402244
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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